Computed Tomography in Mitochondrial Cytopathy

Overview

Journal Neuroradiology

Specialties Neurology
Radiology

Date 1981 Jan 1

PMID 7301109

Citations 6

Authors

J Egger

B E Kendall

Affiliations

Soon will be listed here.

Abstract

The clinical and computed tomographic (CT) findings in 11 proven cases of mitochondrial cytopathy (mitochondrial myopathy, Kearns Sayre syndrome, ophthalmoplegia plus) were studied. The CT changes included focal low density lesions in the basal ganglia and white matter and atrophy which could be slight or diffuse and severe. Calcification has been described in the basal ganglia, but did not occur in our series. Serial CT showed progression of the abnormalities. The differential diagnosis is discussed.

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References

Robertson Jr W, Viseskul C, Lee Y, Lloyd R . Basal ganglia calcification in Kearns-Sayre syndrome. Arch Neurol. 1979; 36(11):711-3. DOI: 10.1001/archneur.1979.00500470081017. View

Valavanis A, FRIEDE R, Schubiger O, Hayek J . Computed tomography in neuronal ceroid lipofuscinosis. Neuroradiology. 1980; 19(1):35-8. DOI: 10.1007/BF00369086. View

Schneck L, Adachi M, Briet P, Wolintz A, VOLK B . Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue. J Neurol Sci. 1973; 19(1):37-44. DOI: 10.1016/0022-510x(73)90054-3. View

Smyth D, Lake B, MacDermot J, Wilson J . Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man. Lancet. 1975; 1(7917):1198-9. DOI: 10.1016/s0140-6736(75)93191-8. View

Egger J, Lake B, Wilson J . Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. Arch Dis Child. 1981; 56(10):741-52. PMC: 1627326. DOI: 10.1136/adc.56.10.741. View

Kearns T, SAYRE G . Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958; 60(2):280-9. View

Merland J, Chiras J, Melki J, CASSAN J . [CT scan in Wilson's disease (author's transl)]. Neuroradiology. 1978; 16:269-70. DOI: 10.1007/BF00395268. View

Toppet M, TELERMAN-TOPPET N, SZLIWOWSKI H, Vainsel M, COERS C . Oculocraniosomatic neuromuscular disease with hypoparathyroidism. Am J Dis Child. 1977; 131(4):437-41. DOI: 10.1001/archpedi.1977.02120170063012. View

Hall K, Gardner-Medwin D . CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy). Neuroradiology. 1978; 16:48-50. DOI: 10.1007/BF00395200. View

10.

Bertorini T, Engel W, DI CHIRO G, Dalakas M . Leukoencephalopathy in oculocraniosomatic neuromuscular disease with ragged-red fibers. Mitochondrial abnormalities demonstrated by computerized tomography. Arch Neurol. 1978; 35(10):643-7. DOI: 10.1001/archneur.1978.00500340019004. View

11.

Seigel R, Seeger J, Gabrielsen T, Allen R . Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). Radiology. 1979; 130(1):159-64. DOI: 10.1148/130.1.159. View

12.

Kark R . Clinical correlations of partial deficiency of lipoamide dehydrogenase. Neurology. 1979; 29(7):1006-13. DOI: 10.1212/wnl.29.7.1006. View

13.

Askanas V, Engel W, Britton D, Adornato B, EIBEN R . Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis. Arch Neurol. 1978; 35(12):801-9. DOI: 10.1001/archneur.1978.00500360025005. View

14.

Olson W, Engel W, Walsh G, EINAUGLER R . Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Arch Neurol. 1972; 26(3):193-211. DOI: 10.1001/archneur.1972.00490090019001. View

15.

SPIRO A, Moore C, Prineas J, Strasberg P, Rapin I . A cytochrome-related inherited disorder of the nervous system and muscle. Arch Neurol. 1970; 23(2):103-12. DOI: 10.1001/archneur.1970.00480260009002. View

16.

Daroff R, SOLITARE G, PINCUS J, GLASER G . Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy. Neurology. 1966; 16(2):161-9. DOI: 10.1212/wnl.16.2_part_1.161. View

17.

Berenberg R, Pellock J, DiMauro S, SCHOTLAND D, Bonilla E, Eastwood A . Lumping or splitting? "Ophthalmoplegia-plus" or Kearns-Sayre syndrome?. Ann Neurol. 1977; 1(1):37-54. DOI: 10.1002/ana.410010104. View

18.

Karpati G, Carpenter S, Larbrisseau A, LAFONTAINE R . The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. J Neurol Sci. 1973; 19(2):133-51. DOI: 10.1016/0022-510x(73)90158-5. View